ReviewJournal of cystic fibrosis : official journal of the European Cystic Fibrosis Society2020
Genetic variation in CFTR and modifier loci may modulate cystic fibrosis disease severity.
Review in Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.Human mutation · 2024Pooled it
- Cholinergic signaling modulates intestinal pathophysiology in a Drosophila model of cystic fibrosis.PLoS genetics · 2026Article
- Article
- Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery.Human mutation · 2025Article
- Advancing the Battle against Cystic Fibrosis: Stem Cell and Gene Therapy Insights.Current medical science · 2024Review
- A New Frontier in Cystic Fibrosis Pathophysiology: How and When Clock Genes Can Affect the Inflammatory/Immune Response in a Genetic Disease Model.Current issues in molecular biology · 2024Review
- The impact of genomic distance on enhancer-promoter interactions at the CFTR locus.Journal of cellular and molecular medicine · 2024Article
- CFTR Modulators: From Mechanism to Targeted Therapeutics.Handbook of experimental pharmacology · 2024Article
- Cystic Fibrosis and Cancer: Unraveling the Complex Role of CFTR Gene in Cancer Susceptibility.Cancers · 2023Review
- A Proteomic Survey of the Cystic Fibrosis Transmembrane Conductance Regulator Surfaceome.International journal of molecular sciences · 2023Review
- Heterogeneity of weight gain after initiation of Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis.Respiratory research · 2023Article
- Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.American journal of respiratory and critical care medicine · 2023Article
- Genetic heterogeneity: Challenges, impacts, and methods through an associative lens.Genetic epidemiology · 2022Review
- Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.International journal of molecular sciences · 2022Review
- Immunoglobulin G: A useful outcome marker in the follow-up of cystic fibrosis patients?Immunity, inflammation and disease · 2021Article
- Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10 years' experience in Lodz Voivodship.Italian journal of pediatrics · 2021Article
- CFTR Rescue in Intestinal Organoids with GLPG/ABBV-2737, ABBV/GLPG-2222 and ABBV/GLPG-2451 Triple Therapy.Frontiers in molecular biosciences · 2021Article
- A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.Journal of personalized medicine · 2020Article
- Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First TimeBalkan medical journal · 2020Article
- The era of CFTR modulators: improvements made and remaining challenges.Breathe (Sheffield, England) · 2020Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
In patients with cystic fibrosis (CF), genetic variants within and outside the CFTR locus contribute to the variability of the disease severity. CFTR transcription is tightly regulated by cis-regulatory elements (CREs) that control the three-dimensional structure of the locus, chromatin accessibility and transcription factor recruitment. Variants within these CREs may contribute to the pathophysiology and to the phenotypic heterogeneity by altering CFTR transcript abundance. In addition to the CREs, variants outside the CFTR locus, namely "modifiers genes", may also be associated with the clinical variability. This review addresses variants at the CFTR locus itself and CFTR CREs, together with the outcomes of the latest modifier gene studies with respect to the different CF phenotypes.
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Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.